| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32359467_32364093del | CA2580087377 | BRCA2 | c.7805+1538_8331+560del c.7436+1538_7962+560del c.272+1538_798+560del c.7805+1538_8339+560del c.370+1538_896+560del c.7709+1538_8235+560del | ClinVar |
| 13 | g.32363288_32363304delinsTTGAGCGCAAATATATC | CA2082835215 | BRCA2 | c.8086_8102delinsTTGAGCGCAAATATATC (p.Leu2696=) c.7717_7733delinsTTGAGCGCAAATATATC (p.Leu2573=) c.553_569delinsTTGAGCGCAAATATATC (p.Leu185=) c.8094_8110delinsTTGAGCGCAAATATATC (n.8094_8110delinsTTGAGCGCAAATATATC) c.651_667delinsTTGAGCGCAAATATATC c.7990_8006delinsTTGAGCGCAAATATATC (p.Leu2664=) | |
| 13 | g.32363292_32363307del | CA645509332 | BRCA2 | c.8090_8105del (p.Ser2697LysfsTer?) c.7721_7736del (p.Ser2574LysfsTer?) c.557_572del (p.Ser186LysfsTer?) c.8098_8113del (n.8098_8113del) c.655_670del c.7994_8009del (p.Ser2665LysfsTer?) | ClinVar dbSNP COSMIC |
| 13 | g.32363299T>A | CA387749294 | BRCA2 | c.8097T>A (p.Asn2699Lys) c.7728T>A (p.Asn2576Lys) c.564T>A (p.Asn188Lys) c.8105T>A (n.8105T>A) c.662T>A c.8001T>A (p.Asn2667Lys) | dbSNP COSMIC COSMIC |
| 13 | g.32363299T>C | CA16607486 | BRCA2 | c.8097T>C (p.Asn2699=) c.7728T>C (p.Asn2576=) c.564T>C (p.Asn188=) c.8105T>C (n.8105T>C) c.662T>C c.8001T>C (p.Asn2667=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32363299T>G | CA387749297 | BRCA2 | c.8097T>G (p.Asn2699Lys) c.7728T>G (p.Asn2576Lys) c.564T>G (p.Asn188Lys) c.8105T>G (n.8105T>G) c.662T>G c.8001T>G (p.Asn2667Lys) | ClinVar dbSNP |
| 13 | g.32363299T= | CA2082835278 | BRCA2 | c.8097T= (p.Asn2699=) c.7728T= (p.Asn2576=) c.564T= (p.Asn188=) c.8105T= (n.8105T=) c.662T= c.8001T= (p.Asn2667=) | |
| 13 | g.32363301_32363315del | CA2697551769 | BRCA2 | c.8099_8113del (p.Ile2700_Ser2704del) c.7730_7744del (p.Ile2577_Ser2581del) c.566_580del (p.Ile189_Ser193del) c.8107_8121del (n.8107_8121del) c.664_678del c.8003_8017del (p.Ile2668_Ser2672del) | ClinVar |
| 13 | g.32363300A= | CA2082835288 | BRCA2 | c.8098A= (p.Ile2700=) c.7729A= (p.Ile2577=) c.565A= (p.Ile189=) c.8106A= (n.8106A=) c.663A= c.8002A= (p.Ile2668=) | |
| 13 | g.32363300A>C | CA025452 | BRCA2 | c.8098A>C (p.Ile2700Leu) c.7729A>C (p.Ile2577Leu) c.565A>C (p.Ile189Leu) c.8106A>C (n.8106A>C) c.663A>C c.8002A>C (p.Ile2668Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32363300A>G | CA6941187 | BRCA2 | c.8098A>G (p.Ile2700Val) c.7729A>G (p.Ile2577Val) c.565A>G (p.Ile189Val) c.8106A>G (n.8106A>G) c.663A>G c.8002A>G (p.Ile2668Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32363300A>T | CA387749299 | BRCA2 | c.8098A>T (p.Ile2700Leu) c.7729A>T (p.Ile2577Leu) c.565A>T (p.Ile189Leu) c.8106A>T (n.8106A>T) c.663A>T c.8002A>T (p.Ile2668Leu) | dbSNP |
| 13 | g.32363301del | CA2573053825 | BRCA2 | c.8099del (p.Ile2700AsnfsTer?) c.7730del (p.Ile2577AsnfsTer?) c.566del (p.Ile189AsnfsTer?) c.8107del (n.8107del) c.664del c.8003del (p.Ile2668AsnfsTer?) | ClinVar dbSNP |
| 13 | g.32363301T>A | CA387749301 | BRCA2 | c.8099T>A (p.Ile2700Lys) c.7730T>A (p.Ile2577Lys) c.566T>A (p.Ile189Lys) c.8107T>A (n.8107T>A) c.664T>A c.8003T>A (p.Ile2668Lys) | ClinVar dbSNP |
| 13 | g.32363301T>C | CA025453 | BRCA2 | c.8099T>C (p.Ile2700Thr) c.7730T>C (p.Ile2577Thr) c.566T>C (p.Ile189Thr) c.8107T>C (n.8107T>C) c.664T>C c.8003T>C (p.Ile2668Thr) | ClinVar dbSNP |
| 13 | g.32363301T>G | CA387749302 | BRCA2 | c.8099T>G (p.Ile2700Arg) c.7730T>G (p.Ile2577Arg) c.566T>G (p.Ile189Arg) c.8107T>G (n.8107T>G) c.664T>G c.8003T>G (p.Ile2668Arg) | |
| 13 | g.32363301T= | CA2082835293 | BRCA2 | c.8099T= (p.Ile2700=) c.7730T= (p.Ile2577=) c.566T= (p.Ile189=) c.8107T= (n.8107T=) c.664T= c.8003T= (p.Ile2668=) | |
| 13 | g.32363301dup | CA2739277542 | BRCA2 | c.8099dup (p.Ser2701IlefsTer2) c.7730dup (p.Ser2578IlefsTer2) c.566dup (p.Ser190IlefsTer2) c.8107dup (n.8107dup) c.664dup c.8003dup (p.Ser2669IlefsTer2) | ClinVar |
| 13 | g.32363302A= | CA2082835303 | BRCA2 | c.8100A= (p.Ile2700=) c.7731A= (p.Ile2577=) c.567A= (p.Ile189=) c.8108A= (n.8108A=) c.665A= c.8004A= (p.Ile2668=) | |
| 13 | g.32363302A>C | CA483439596 | BRCA2 | c.8100A>C (p.Ile2700=) c.7731A>C (p.Ile2577=) c.567A>C (p.Ile189=) c.8108A>C (n.8108A>C) c.665A>C c.8004A>C (p.Ile2668=) | |
| 13 | g.32363302A>G | CA387749304 | BRCA2 | c.8100A>G (p.Ile2700Met) c.7731A>G (p.Ile2577Met) c.567A>G (p.Ile189Met) c.8108A>G (n.8108A>G) c.665A>G c.8004A>G (p.Ile2668Met) | ClinVar dbSNP |
| 13 | g.32363302A>T | CA483439600 | BRCA2 | c.8100A>T (p.Ile2700=) c.7731A>T (p.Ile2577=) c.567A>T (p.Ile189=) c.8108A>T (n.8108A>T) c.665A>T c.8004A>T (p.Ile2668=) | dbSNP |
| 13 | g.32363303T>A | CA387749306 | BRCA2 | c.8101T>A (p.Ser2701Thr) c.7732T>A (p.Ser2578Thr) c.568T>A (p.Ser190Thr) c.8109T>A (n.8109T>A) c.666T>A c.8005T>A (p.Ser2669Thr) | dbSNP |
| 13 | g.32363303T>C | CA025455 | BRCA2 | c.8101T>C (p.Ser2701Pro) c.7732T>C (p.Ser2578Pro) c.568T>C (p.Ser190Pro) c.8109T>C (n.8109T>C) c.666T>C c.8005T>C (p.Ser2669Pro) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32363303T>G | CA387749309 | BRCA2 | c.8101T>G (p.Ser2701Ala) c.7732T>G (p.Ser2578Ala) c.568T>G (p.Ser190Ala) c.8109T>G (n.8109T>G) c.666T>G c.8005T>G (p.Ser2669Ala) | |
| 13 | g.32363303T= | CA2082835315 | BRCA2 | c.8101T= (p.Ser2701=) c.7732T= (p.Ser2578=) c.568T= (p.Ser190=) c.8109T= (n.8109T=) c.666T= c.8005T= (p.Ser2669=) | |
| 13 | g.32363304C>A | CA387749311 | BRCA2 | c.8102C>A (p.Ser2701Tyr) c.7733C>A (p.Ser2578Tyr) c.569C>A (p.Ser190Tyr) c.8110C>A (n.8110C>A) c.667C>A c.8006C>A (p.Ser2669Tyr) | |
| 13 | g.32363304C= | CA2082835326 | BRCA2 | c.8102C= (p.Ser2701=) c.7733C= (p.Ser2578=) c.569C= (p.Ser190=) c.8110C= (n.8110C=) c.667C= c.8006C= (p.Ser2669=) | |
| 13 | g.32363304C>G | CA10579767 | BRCA2 | c.8102C>G (p.Ser2701Cys) c.7733C>G (p.Ser2578Cys) c.569C>G (p.Ser190Cys) c.8110C>G (n.8110C>G) c.667C>G c.8006C>G (p.Ser2669Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32363304C>T | CA387749314 | BRCA2 | c.8102C>T (p.Ser2701Phe) c.7733C>T (p.Ser2578Phe) c.569C>T (p.Ser190Phe) c.8110C>T (n.8110C>T) c.667C>T c.8006C>T (p.Ser2669Phe) | ClinVar dbSNP |
| 13 | g.32363305T>A | CA483439601 | BRCA2 | c.8103T>A (p.Ser2701=) c.7734T>A (p.Ser2578=) c.570T>A (p.Ser190=) c.8111T>A (n.8111T>A) c.668T>A c.8007T>A (p.Ser2669=) | dbSNP |
| 13 | g.32363305T>C | CA483439602 | BRCA2 | c.8103T>C (p.Ser2701=) c.7734T>C (p.Ser2578=) c.570T>C (p.Ser190=) c.8111T>C (n.8111T>C) c.668T>C c.8007T>C (p.Ser2669=) | ClinVar dbSNP |
| 13 | g.32363305T>G | CA025456 | BRCA2 | c.8103T>G (p.Ser2701=) c.7734T>G (p.Ser2578=) c.570T>G (p.Ser190=) c.8111T>G (n.8111T>G) c.668T>G c.8007T>G (p.Ser2669=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32363305T= | CA2082835333 | BRCA2 | c.8103T= (p.Ser2701=) c.7734T= (p.Ser2578=) c.570T= (p.Ser190=) c.8111T= (n.8111T=) c.668T= c.8007T= (p.Ser2669=) | |
| 13 | g.32363306G>A | CA387749317 | BRCA2 | c.8104G>A (p.Glu2702Lys) c.7735G>A (p.Glu2579Lys) c.571G>A (p.Glu191Lys) c.8112G>A (n.8112G>A) c.669G>A c.8008G>A (p.Glu2670Lys) | ClinVar dbSNP |
| 13 | g.32363306G>C | CA247477685 | BRCA2 | c.8104G>C (p.Glu2702Gln) c.7735G>C (p.Glu2579Gln) c.571G>C (p.Glu191Gln) c.8112G>C (n.8112G>C) c.669G>C c.8008G>C (p.Glu2670Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32363306G= | CA2082835360 | BRCA2 | c.8104G= (p.Glu2702=) c.7735G= (p.Glu2579=) c.571G= (p.Glu191=) c.8112G= (n.8112G=) c.669G= c.8008G= (p.Glu2670=) | |
| 13 | g.32363306G>T | CA387749319 | BRCA2 | c.8104G>T (p.Glu2702Ter) c.7735G>T (p.Glu2579Ter) c.571G>T (p.Glu191Ter) c.8112G>T (n.8112G>T) c.669G>T c.8008G>T (p.Glu2670Ter) | |
| 13 | g.32363307A>C | CA387749321 | BRCA2 | c.8105A>C (p.Glu2702Ala) c.7736A>C (p.Glu2579Ala) c.572A>C (p.Glu191Ala) c.8113A>C (n.8113A>C) c.670A>C c.8009A>C (p.Glu2670Ala) | |
| 13 | g.32363307A>G | CA387749323 | BRCA2 | c.8105A>G (p.Glu2702Gly) c.7736A>G (p.Glu2579Gly) c.572A>G (p.Glu191Gly) c.8113A>G (n.8113A>G) c.670A>G c.8009A>G (p.Glu2670Gly) | |
| 13 | g.32363307A>T | CA387749320 | BRCA2 | c.8105A>T (p.Glu2702Val) c.7736A>T (p.Glu2579Val) c.572A>T (p.Glu191Val) c.8113A>T (n.8113A>T) c.670A>T c.8009A>T (p.Glu2670Val) | dbSNP |
| 13 | g.32363308A>C | CA387749326 | BRCA2 | c.8106A>C (p.Glu2702Asp) c.7737A>C (p.Glu2579Asp) c.573A>C (p.Glu191Asp) c.8114A>C (n.8114A>C) c.671A>C c.8010A>C (p.Glu2670Asp) | |
| 13 | g.32363308A>G | CA483439607 | BRCA2 | c.8106A>G (p.Glu2702=) c.7737A>G (p.Glu2579=) c.573A>G (p.Glu191=) c.8114A>G (n.8114A>G) c.671A>G c.8010A>G (p.Glu2670=) | ClinVar |
| 13 | g.32363308A>T | CA387749327 | BRCA2 | c.8106A>T (p.Glu2702Asp) c.7737A>T (p.Glu2579Asp) c.573A>T (p.Glu191Asp) c.8114A>T (n.8114A>T) c.671A>T c.8010A>T (p.Glu2670Asp) | dbSNP |
| 13 | g.32363309A>C | CA387749330 | BRCA2 | c.8107A>C (p.Thr2703Pro) c.7738A>C (p.Thr2580Pro) c.574A>C (p.Thr192Pro) c.8115A>C (n.8115A>C) c.672A>C c.8011A>C (p.Thr2671Pro) | dbSNP |
| 13 | g.32363309A>G | CA387749332 | BRCA2 | c.8107A>G (p.Thr2703Ala) c.7738A>G (p.Thr2580Ala) c.574A>G (p.Thr192Ala) c.8115A>G (n.8115A>G) c.672A>G c.8011A>G (p.Thr2671Ala) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32363309A>T | CA387749333 | BRCA2 | c.8107A>T (p.Thr2703Ser) c.7738A>T (p.Thr2580Ser) c.574A>T (p.Thr192Ser) c.8115A>T (n.8115A>T) c.672A>T c.8011A>T (p.Thr2671Ser) | dbSNP |
| 13 | g.32363310C>A | CA387749339 | BRCA2 | c.8108C>A (p.Thr2703Asn) c.7739C>A (p.Thr2580Asn) c.575C>A (p.Thr192Asn) c.8116C>A (n.8116C>A) c.673C>A c.8012C>A (p.Thr2671Asn) | ClinVar dbSNP |
| 13 | g.32363310C>G | CA387749337 | BRCA2 | c.8108C>G (p.Thr2703Ser) c.7739C>G (p.Thr2580Ser) c.575C>G (p.Thr192Ser) c.8116C>G (n.8116C>G) c.673C>G c.8012C>G (p.Thr2671Ser) | dbSNP |
| 13 | g.32363310C>T | CA387749335 | BRCA2 | c.8108C>T (p.Thr2703Ile) c.7739C>T (p.Thr2580Ile) c.575C>T (p.Thr192Ile) c.8116C>T (n.8116C>T) c.673C>T c.8012C>T (p.Thr2671Ile) |